Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu)

Neurology

Volumn 61, Issue 8, 2003, Pages 1136-1137

  Portet, Florence ^a,b   Dauvilliers, Y ^a,b   Campion, D ^b   Raux, G ^b   Hauw, J J ^c   Lyon Caen, O ^c   Camu, W ^a   Touchon, J ^a,b  

^a GUI DE CHAULIAC HOSPITAL   (France)

^b INSERM   (France)

^c University Evry Paris 7 Medical School   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; LEUCINE; METHIONINE; PIRACETAM; PRESENILIN 1; VALPROIC ACID;

ADULT; ALZHEIMER DISEASE; ARTICLE; BRAIN BIOPSY; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; ELECTROENCEPHALOGRAM; FAMILY HISTORY; FEMALE; FRONTAL LOBE; GENE MUTATION; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; LABORATORY TEST; MYOCLONUS; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; PATIENT INFORMATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEIZURE; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

EID: 0344464874     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000086811.39675.79     Document Type: Article

References (10)

1. Cruts M, Hendriks L, Vanbroeckhoven C. The presenilin gene: a new gene family involved in Alzheimer pathology. Hum Mol Genet 1996;5: 1449-1455.
2. Campion D, Dumanchin C, Hannequin D, et al. Early onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet 1999;65:664-670.
3. Janssen JC, Hall M, Fox C, et al. Alzheimer's disease due to an intronic presenilin-1 (PSEN1 intron 4) mutation. Brain 2000;123:894-907.
4. Van Broeckhoven CL, Backhovens H, Cruts M, et al. ApoE genotypes does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease. Neurosci Lett 1994;169:179-180.
5. Ballerini C, Nacmias B, Rombola G, et al. HLA-A2 allele is associated with age at onset of Alzheimer's disease. Ann Neurol 1999;45:397-400.
6. Johnson JK, Head E, Kim R, et al. Clinical and pathological evidence for a frontal variant of Alzheimer disease. Arch Neurol 1999;56:1233-1239.
7. Queralt R, Ezquerra M, Lleo A, et al. A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances. J Neurol Neurosurg Psychiatry 2002; 72:266-269.
8. Mattila KM, Forsell C, Pirttilä T, et al. The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease. Ann Neurol 1998;44:965-967.
9. Rogavea EA, Fafel KC, Song YQ, et al. Screening for PS1 mutations in a referral-based series of AD cases. 21 novel mutations. Neurology 2001;57:621-625.
10. Aldudo J, Bullido MJ, Valdivieso F. DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutations. Hum Mutat 1999;14: 433-439.